No paralogue variants have been mapped to residue 4523 for RYR1.
RYR1 | PEPEPELEPEKADAENGEKEEVPEPTPEPP>K<KQ---------APPSPPPKKEEAGGEFWGE | 4544 |
RYR2 | EKEETKSEPEKAEGEDGEKEEKAKEDKGKQ>K<LR--------QLHTHRYGEPEVPESAFWKK | 4483 |
RYR3 | NEAEGKVESEKADMEDGEKEDKDKEEEQAE>Y<LWTEVTKKKKRRCGQKVEKPEAFTANFFKG | 4394 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K4523R | c.13568A>G | Putative Benign | SIFT: Polyphen: |